DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Disease: Dyggve-Melchior-Clausen syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074163
rs120074163
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		0.800 GeneticVariation UNIPROT The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. 18996921 2009
dbSNP: rs120074163
rs120074163
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		0.800 GeneticVariation UNIPROT Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. 12554689 2003
dbSNP: rs120074163
rs120074163
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		0.800 GeneticVariation UNIPROT Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. 12491225 2003
dbSNP: rs120074163
rs120074163
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs120074161
rs120074161
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs120074162
rs120074162
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1471488189
rs1471488189
Entrez Id: 54808;100129878
Gene Symbol: DYM;LOC100129878
DYM;LOC100129878
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1568119124
rs1568119124
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1568264929
rs1568264929
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1568319747
rs1568319747
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs775414124
rs775414124
Entrez Id: 54808
Gene Symbol: DYM
DYM
CUI: C0265286
Disease:
Dyggve-Melchior-Clausen syndrome 		C 0.700 CausalMutation CLINVAR